Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia
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DOI: 10.1038/jhg.2016.136
Abstract: Osteosclerotic metaphyseal dysplasia (OSMD) is a rare skeletal dysplasia characterized by osteosclerotic metaphyses with osteopenic diaphyses of the long tubular bones. Our previous study identified a homozygous elongation mutation in leucine-rich repeat kinase 1 gene… read more here.
Keywords: lrrk1 mutation; osteosclerotic metaphyseal; dysplasia; metaphyseal dysplasia ... See more keywords